Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2005-10-19

Study Completion Date

2030-12-31

Brief Summary

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Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.

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Detailed Description

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Pheochromocytoma and paragangliomas are tumors originated from neuroectoderm cells located in the adrenal or extra-adrenal paraganglia, often leading to increased secretion of hormones known as catecholamines. These tumors represent a potentially curable cause of hypertension and are malignant in about 10-15% of the cases. Approximately 40% of patients with pheochromocytomas and/or paraganglioma have an inherited mutation. In addition, some patients and/or their relatives that are mutation carriers can develop other tumors as part of inherited cancer susceptibility syndromes. Therefore, detection of the susceptibility mutation is important for diagnosis and follow up. However, the susceptibility gene mutation cannot be identified in all cases. Studies that aim to identify novel susceptibility genes for pheochromocytoma are required.

The fist aim of this study is to identify novel pheochromocytoma susceptibility genes. Characterization of such gene(s) can improve our understanding of the pathogenesis pheochromocytoma and paraganglioma and have an impact in diagnosis, therapeutic planning and genetic screening of relatives.

The second aim of this project is to characterize relationships between mutations and clinical features that can provide insights into clinical surveillance and screening of at-risk individuals.

Conditions

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Pheochromocytoma Paraganglioma Inherited Cancer Syndrome Associated Conditions Kidney Neoplasms Bone Cancer Thyroid Neoplasms Other Cancer

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Interventions

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Genetic screening

Germline and/or tumor samples will be screened for mutations

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* diagnosis of pheochromocytoma and or paraganglioma
* family member with diagnosis of pheochromocytoma and or paraganglioma
* diagnosis of a pheochromocytoma- and or paraganglioma-associated condition
* family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition